L19P (p.Leu19Pro) variant of PINK1 (Q9BXM7)
L19P (p.Leu19Pro) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD 1-20633604-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.48
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available